Publications:

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Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine

Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2021-10

Variant appearance in text: TSC2: 894dupT; V299fs

PubMed Link: 34480426

Variant Present in the following documents:

• Main text
• MGG3-9-e1802.pdf

View BVdb publication page

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Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine

Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2021-10

Variant appearance in text: TSC2: 894dupT; V299fs

PubMed Link: 34480426

Variant Present in the following documents:

• Main text
• MGG3-9-e1802.pdf

View BVdb publication page

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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

Plos One

Mrozek, Evelyn M EM; Bajaj, Vineeta V; Guo, Yanan Y; Malinowska, Izabela A IA; Zhang, Jianming J; Kwiatkowski, David J DJ

Publication Date: 2021

Variant appearance in text: TSC2: 888_889insT; Val299Cysfs*39

PubMed Link: 33891611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: rs137854024

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TSC2: V299Cfs*39

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Plos Genetics

Giannikou, Krinio K; Malinowska, Izabela A IA; Pugh, Trevor J TJ; Yan, Rachel R; Tseng, Yuen-Yi YY; Oh, Coyin C; Kim, Jaegil J; Tyburczy, Magdalena E ME; Chekaluk, Yvonne Y; Liu, Yang Y; Alesi, Nicola N; Finlay, Geraldine A GA; Wu, Chin-Lee CL; Signoretti, Sabina S; Meyerson, Matthew M; Getz, Gad G; Boehm, Jesse S JS; Henske, Elizabeth P EP; Kwiatkowski, David J DJ

Publication Date: 2016-08

Variant appearance in text: TSC2: 888_889insT

PubMed Link: 27494029

Variant Present in the following documents:

• Main text
• pgen.1006242.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TSC2: 888_889insT

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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